Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36 19
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 18
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 16
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 15
rs79658334
RET
0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 14
rs6983267
PCAT1 ; CCAT2 ; CASC8 ; POU5F1B
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 13
rs77724903
RET
0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 11
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 10
rs1443438
PTCSC2
0.827 0.080 9 97787746 intron variant T/A;C snv 8
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 7
rs56062135
SMAD3
0.790 0.200 15 67163292 intron variant C/T snv 0.18 6
rs587779826
ATM
0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06 5
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 5
rs6793295
LRRC34
0.827 0.240 3 169800667 missense variant T/C;G snv 0.37; 1.8E-04 5
rs925489
PTCSC2
0.882 0.080 9 97784318 intron variant C/T snv 0.71 5
rs142698837
TG
0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04 5
rs7080536
HABP2 ; NRAP
0.683 0.360 10 113588287 missense variant G/A snv 2.2E-02 2.4E-02 4
rs10759944
PTCSC2
0.925 0.080 9 97794690 intron variant A/G snv 0.72 4
rs965513
PTCSC2
0.742 0.200 9 97793827 intron variant A/G;T snv 4
rs116909374 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 3
rs12785878
NADSYN1
0.677 0.520 11 71456403 intron variant G/A;T snv 3